Dermatology · Dermatology / Neurocutaneous syndromes
LEOPARD syndrome
also: Noonan syndrome with multiple lentigines
Multiple lentigines with cardiac, genital and ear anomalies.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Neurocutaneous syndromes
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, lentigines from age 4–5 years
- Gene(s) involved
- BRAF, MAP2K1, PTPN11, RAF1
- Alternative names & eponyms
- Noonan syndrome with multiple lentigines
Etiology & mechanism
Catalytically impaired SHP2 phosphatase dysregulating RAS signaling.
Gene(s) involved (4)
Symptoms & signs (7)
In plain terms, someone with LEOPARD syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
6 shared
Noonan syndrome with multiple lentigines
genital anomalies, hypertelorism, hypertrophic cardiomyopathy, multiple lentigines, pulmonary stenosis, sensorineural deafness
3 shared
Noonan syndrome
hypertelorism, hypertrophic cardiomyopathy, short stature
2 shared
Aarskog–Scott syndrome
hypertelorism, short stature
2 shared
Cardiofaciocutaneous syndrome
hypertrophic cardiomyopathy, pulmonary stenosis
2 shared
Costello syndrome
hypertrophic cardiomyopathy, short stature
2 shared
MELAS syndrome
sensorineural deafness, short stature
1 shared
3M syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Barakat syndrome
sensorineural deafness
1 shared
Bloom syndrome
short stature
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